MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MVA SYNDROME
MVA1
Number of Symptoms 56
OrphanetNr:
OMIM Id: 257300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis 257 / 7739
2
(HPO:0000048) Bifid scrotum 36 / 7739
3
(HPO:0000107) Renal cyst 126 / 7739
4
(HPO:0000047) Hypospadias 250 / 7739
5
(HPO:0000062) Ambiguous genitalia 74 / 7739
6
(HPO:0000028) Cryptorchidism 347 / 7739
7
(HPO:0002667) Nephroblastoma 30 / 7739
8
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
9
(HPO:0001305) Dandy-Walker malformation 79 / 7739
10
(HPO:0005280) Depressed nasal bridge 381 / 7739
11
(HPO:0000248) Brachycephaly 222 / 7739
12
(HPO:0000286) Epicanthus 371 / 7739
13
(HPO:0000207) Triangular mouth 8 / 7739
14
(HPO:0000175) Cleft palate 349 / 7739
15
(HPO:0000348) High forehead 157 / 7739
16
(HPO:0000470) Short neck 345 / 7739
17
(HPO:0011800) Midface retrusion 221 / 7739
18
(HPO:0000347) Micrognathia 426 / 7739
19
(HPO:0000343) Long philtrum 262 / 7739
20
(HPO:0000463) Anteverted nares 305 / 7739
21
(HPO:0000316) Hypertelorism 644 / 7739
22
(HPO:0000639) Nystagmus 555 / 7739
23
(HPO:0000518) Cataract 454 / 7739
24
(HPO:0000358) Posteriorly rotated ears 163 / 7739
25
(HPO:0000369) Low-set ears 372 / 7739
26
(HPO:0002187) Intellectual disability, profound 44 / 7739
27
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
28
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
29
(HPO:0000879) Short sternum 16 / 7739
30
(HPO:0001562) Oligohydramnios 75 / 7739
31
(HPO:0011968) Feeding difficulties 240 / 7739
32
(HPO:0001518) Small for gestational age 107 / 7739
33
(HPO:0004322) Short stature 1232 / 7739
34
(HPO:0001909) Leukemia 46 / 7739
35
(HPO:0002859) Rhabdomyosarcoma 10 / 7739
36
(HPO:0004430) Severe combined immunodeficiency 16 / 7739
37
(HPO:0005387) Combined immunodeficiency 5 / 7739
38
(HPO:0001290) Generalized hypotonia 51 / 7739
39
(OMIM) Posterior fossa malformations 1 / 7739
40
(OMIM) Anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies 1 / 7739
41
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
42
(OMIM) Developmental delay, profound 6 / 7739
43
(OMIM) Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy 1 / 7739
44
(OMIM) Low postnatal weight 1 / 7739
45
(OMIM) Propensity to tumor development 1 / 7739
46
(OMIM) Pachymacrogyria 1 / 7739
47
(OMIM) Microcephaly, severe 4 / 7739
48
(OMIM) Short, wide nose 2 / 7739
49
(HPO:0000238) Hydrocephalus 278 / 7739
50
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
51
(HPO:0002119) Ventriculomegaly 253 / 7739
52
(OMIM) More than 50% of mitotic cells show premature chromatid separation (PCS) affecting all chromosomes 1 / 7739
53
(OMIM) Hypoplastic cerebrum 1 / 7739
54
(OMIM) Cerebral oligogyria 1 / 7739
55
(OMIM) Growth retardation, prenatal and postnatal 1 / 7739
56
(HPO:0006849) Hypodysplasia of the corpus callosum 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues (Hanks et al., 2004). The proportion of aneuploid cells varies but is usually more than 25% ...
Clinical Description OMIM Scheres et al. (1986) and Unteregger et al. (1987) reported a 29-year-old woman with mental retardation and microcephaly. Cell culture studies showed various aneuploidies in 15% of her cells. Premature chromatid separation was observed in approximately 60% of ...
Molecular genetics OMIM Hanks et al. (2004) hypothesized that mutations in a gene involved in the mitotic spindle checkpoint might underlie MVA. In affected members of 5 of 8 MVA families, they identified biallelic mutations in the BUB1B gene (see, e.g., ...